search

populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP
MIT License
5 stars 4 forks source link

Create Seqr Specific Output File(s) #282

Closed MattWellie closed 11 months ago

MattWellie commented 1 year ago

See https://github.com/broadinstitute/seqr-private/issues/1254

Proposal: Take the historic data file and do some embellishment to create the required seqr format, discussions ongoing

  1. This file already contains samples, variants, categories applied, and dates of first qualification
  2. Embellishment to include a labels field, indicating prioritisation based on as-yet undetermined factors
  3. Retain/remove the comp-het variants this variant has been paired with. Not sure if there's a need for this.
MattWellie commented 11 months ago

A Helper method has been included transliterate from the main output file to a dedicated Seqr format file - not currently part of the core process